相关实验视频

Updated: Jun 22, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

基于高真实性测序的汉型解析的中国男性基因组组合

Xiaofei Yang^1,2,3, Xixi Zhao¹, Shoufang Qu⁴

¹Genome Institute, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, Shaanxi, China.

Fundamental research

|June 27, 2024

概括

高保真性 (HiFi) 测序使得两个完整的汉族基因组的创建成为可能. 这为人口基因组学和遗传学研究提供了有价值的新参考.

科学领域:

基因组学就是基因组学.
人口遗传学人口遗传学
生物信息学是一种生物信息学.

背景情况:

染色体尺度哈普洛型解析基因组组装对于理解遗传多样性至关重要.
高保真 (HiFi) 测序技术为复杂的基因组结构提供了更高的准确性和长度.

研究的目的:

通过使用HiFi和Hi-C测序,从中国汉族男性身上组装出高质量的,通过哈普类型解析的基因组.
为中国汉族人口建立高质量的参考基因组.

主要方法:

使用HiFi和Hi-C技术对中国汉族男性细胞系 (HJ) 进行测序.
两个不同的单元型 (H1和H2) 的基因组组合.
与现有的人类基因组参考资料进行比较分析 (GRCh38).

主要成果:

与其他中国基因组相比,两种高质量的单基因组 (H1: 3.1 Gb,H2: 2.9 Gb) 的组合具有优越的连续性和完整性.
填补N缺口和新序列的识别,包括数百个蛋白质编码基因.
对HJ基因组进行了详细的突变景观分析.

结论:

HiFi读数显著增强了哈普洛型解析的基因组组装.
汉族基因组为中国汉族人口提供了有价值,高质量的参考资料.
这项研究突出了对人口基因组学先进测序的潜力.

关键词:

汉语汉语中国人汉语汉语基因组组装组的基因组组装组哈普洛型解析的哈普洛型 HiFi可以读取.人类基因组人类基因组突变的景观突变的景观

更多相关视频

Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies

Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies

Published on: August 20, 2021

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

相关概念视频

Genome Annotation and Assembly

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.